Finally, we examined whether the phenotype‐associated known/candidate pathogenic variants could explain the patient's disease, andif the MAF in population‐matched control data (8.3kJPN) was relatedto disease prevalence. Patients were classified as “Solved” if theirgenotype was consistent with their clinical phenotype. Patients wereclassified as “Partially solved” when a heterozygous known/candidatepathogenic variant was detected in a recessive allele, but without anadditional variant in trans. Patients were categorized as “Unsolved” iftheir genotypes exhibited either no candidate pathogenic variants ormultiple heterozygous pathogenic variants that did not explain thephenotype clearly. Variants annotated as causal for solved patients arelisted in Supporting Information: Table S2. Novel variants identified inthis study are listed in the second sheet of Table S2. SupportingInformation: Table S3 shows the phenotypes and genotypes of solvedpatients.